A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751806



Internal ID12638672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54768453..54845969hg38UCSC Ensembl
Innerchr19:55279905..55357424hg19UCSC Ensembl
Innerchr19:59971717..60049236hg18UCSC Ensembl
Innerchr19:59971717..60049236hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3877517
hg1977520
hg1877520
hg1777520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv145e55
Supporting Variantsessv6989415, essv6984162
SamplesBEC_792
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751806
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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